ABCMdb

PMID: 24224009

Cui YX, Xia XY, Zhou Y, Gao L, Shang XJ, Ni T, Wang WP, Fan XB, Yin HL, Jiang SJ, Yao B, Hu YA, Wang G, Li XJ
Novel mutations of ABCB6 associated with autosomal dominant dyschromatosis universalis hereditaria.
PLoS One. 2013 Nov 5;8(11):e79808. doi: 10.1371/journal.pone.0079808. eCollection 2013., [PubMed]

Sentences

No. Mutations Sentence Comment

12 ABCB6 p.Gln555Lys A missense mutation (c.1663 C>A, p.Gln555Lys) in ABCB6 was identified in this family by exome and Sanger sequencing. Login to comment 91 ABCB6 p.Gln555Lys 5496 C>A, c.1663C > A, p. Gln555Lys in exon 11 of ABCB6 (Figure 3A) was further identified in the 21 affected members, but absent in the 14 unaffected members from the family and completely cosegregated with the skin phenotype. An additional mutation in exon 1 of ABCB6 (g.776 delC, c.459 delC) was detected (Figure 3B) in an unrelated sporadic patient with typical DUH (Figure 1C), however, no mutation in ABCB6 was found in the other two patients. Login to comment 106 ABCB6 p.Gln555Lys Discussion In the study, we found a c. 1663 C>A, p.Gln555Lys heterozygous mutation of ABCB6 in exon 11, which perfectly cosegregated with the disorder in the family. Login to comment 132 ABCB6 p.Arg375Trp ABCB6 p.Arg375Gln Heterozygous missense mutations of ABCB6 (p.R375Q and p.R375W) were found in dominant familial pseudohyperkalemia, which were likely to be gain-of-function mutations suggested by Andolfo et al.[17]. Login to comment 133 ABCB6 p.Leu811Val ABCB6 p.Ala57Thr Heterozygous missense mutations (p.L811V and p.A57T) in ABCB6 caused iris coloboma, aniridia, chorioretinal coloboma [14]. Login to comment 135 ABCB6 p.Leu356Pro ABCB6 p.Gly579Glu ABCB6 p.Ser170Gly Mutations of p.S170G, p.L356P, p.G579E in ABCB6 resulted in DUH [12]. Login to comment